Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
复合杂合肌动蛋白突变引发典型杆状体肌病，揭示肌丝结构变化是发病机制
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-020-16526-9
Johan Lindqvist, Weikang Ma, Frank Li, Yaeren Hernandez, Justin Kolb, Balazs Kiss, Paola Tonino, Robbert van der Pijl, Esmat Karimi, Henry Gong, Josh Strom, Zaynab Hourani, John E Smith 3rd, Coen Ottenheijm, Thomas Irving, Henk Granzier
